Canonical Allele Identifier: CA413920102
Gene: BTK HGNC NCBI

Linked Data

ClinVar Variation Id: 1370125
ClinVar RCV Id: RCV001870933
dbSNP Id: rs2147424863

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101353890T>G , CM000685.2:g.101353890T>G GRCh38
NC_000023.10:g.100608878T>G , CM000685.1:g.100608878T>G GRCh37
NC_000023.9:g.100495534T>G NCBI36
NG_009616.1:g.37335A>C , LRG_128:g.37335A>C
NG_011734.1:g.80A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000478995.2:n.3247A>C
ENST00000488970.2:n.3886A>C
ENST00000695614.1:c.1730A>C ENSP00000512053.1:p.Lys577Thr
ENST00000695615.1:c.1730A>C ENSP00000512054.1:p.Lys577Thr
ENST00000695616.1:c.*1575A>C ENSP00000512055.1:n.*1575A>C
ENST00000695617.1:c.1727A>C ENSP00000512056.1:p.Lys576Thr
ENST00000695618.1:c.*1479A>C ENSP00000512058.1:n.*1479A>C
ENST00000695619.1:c.*1440A>C ENSP00000512059.1:n.*1440A>C
ENST00000695620.1:c.*1656A>C ENSP00000512060.1:n.*1656A>C
ENST00000695621.1:c.*155A>C ENSP00000512061.1:n.*155A>C
ENST00000695622.1:c.1667A>C ENSP00000512062.1:p.Lys556Thr
ENST00000695623.1:c.1724A>C ENSP00000512063.1:p.Lys575Thr
ENST00000695624.1:n.1035A>C
ENST00000695625.1:c.1730A>C ENSP00000512064.1:p.Lys577Thr
ENST00000695626.1:c.485A>C ENSP00000512065.1:n.485A>C
ENST00000695627.1:c.678A>C ENSP00000512066.1:n.678A>C
ENST00000695628.1:c.289A>C ENSP00000512067.1:n.289A>C
ENST00000695629.1:c.191-539A>C ENSP00000512068.1:n.191-539A>C
ENST00000695630.1:c.457A>C
ENST00000695631.1:c.115-642A>C
ENST00000703407.1:c.1202A>C ENSP00000512057.1:p.Lys401Thr
ENST00000308731.8:c.1730A>C MANE Select ENSP00000308176.8:p.Lys577Thr
ENST00000308731.7:c.1730A>C ENSP00000308176.7:p.Lys577Thr
ENST00000372880.5:c.1202A>C ENSP00000361971.1:p.Lys401Thr
ENST00000470069.1:n.95A>C
ENST00000488970.1:n.332A>C
ENST00000618050.4:c.1729A>C ENSP00000479125.1:n.1729A>C
ENST00000621635.4:c.1832A>C ENSP00000483570.1:p.Lys611Thr
NM_000061.2:c.1730A>C , LRG_128t1:c.1730A>C NP_000052.1:p.Lys577Thr
NM_001287344.1:c.1832A>C NP_001274273.1:p.Lys611Thr
NM_001287345.1:c.1202A>C NP_001274274.1:p.Lys401Thr
NM_000061.3:c.1730A>C MANE Select NP_000052.1:p.Lys577Thr
NM_001287344.2:c.1832A>C NP_001274273.1:p.Lys611Thr
NM_001287345.2:c.1202A>C NP_001274274.1:p.Lys401Thr